A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161259



Internal ID8252754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:72935473..73096820hg38UCSC Ensembl
Innerchr11:72646518..72807865hg19UCSC Ensembl
Innerchr11:72324166..72485513hg18UCSC Ensembl
Innerchr11:72324166..72485513hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38161348
hg19161348
hg18161348
hg17161348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422418
Supporting Variants
SamplesND01840
Known GenesFCHSD2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161259
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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